Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Edrf1'

424658

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

042873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133239422-133274710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133252295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 449 (Y449H)

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051169
AA Change: Y449H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: Y449H

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128901
AA Change: Y415H

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: Y415H

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	1137	1150	N/A	INTRINSIC
low complexity region	1195	1203	N/A	INTRINSIC

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,517,310 (GRCm39)	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Gtf2f2	T	C	14: 76,135,089 (GRCm39)	Y212C	probably damaging	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Obox3	T	C	7: 15,360,774 (GRCm39)	K122E	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Plekhh3	T	A	11: 101,057,397 (GRCm39)	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Wdr25	T	C	12: 108,863,968 (GRCm39)	S38P	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	Het

Other mutations in Edrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Edrf1	APN	7	133,260,282 (GRCm39)	nonsense	probably null
IGL01637:Edrf1	APN	7	133,252,254 (GRCm39)	missense	probably damaging	1.00
IGL01697:Edrf1	APN	7	133,245,459 (GRCm39)	missense	probably benign	0.02
IGL01893:Edrf1	APN	7	133,258,831 (GRCm39)	missense	probably benign	0.09
IGL02202:Edrf1	APN	7	133,258,699 (GRCm39)	missense	probably benign	0.00
IGL02278:Edrf1	APN	7	133,258,729 (GRCm39)	missense	probably benign	0.00
IGL02382:Edrf1	APN	7	133,252,344 (GRCm39)	splice site	probably benign
IGL02743:Edrf1	APN	7	133,258,220 (GRCm39)	unclassified	probably benign
R0265:Edrf1	UTSW	7	133,258,774 (GRCm39)	missense	probably damaging	1.00
R0282:Edrf1	UTSW	7	133,245,751 (GRCm39)	missense	probably benign	0.21
R1167:Edrf1	UTSW	7	133,245,795 (GRCm39)	missense	probably benign	0.08
R1633:Edrf1	UTSW	7	133,253,869 (GRCm39)	missense	probably damaging	1.00
R2039:Edrf1	UTSW	7	133,255,678 (GRCm39)	nonsense	probably null
R2060:Edrf1	UTSW	7	133,258,858 (GRCm39)	nonsense	probably null
R2920:Edrf1	UTSW	7	133,269,301 (GRCm39)	missense	probably benign	0.00
R4770:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R4887:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R4888:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5135:Edrf1	UTSW	7	133,252,773 (GRCm39)	missense	probably benign	0.03
R5156:Edrf1	UTSW	7	133,261,908 (GRCm39)	missense	probably damaging	1.00
R5342:Edrf1	UTSW	7	133,253,639 (GRCm39)	splice site	probably null
R5416:Edrf1	UTSW	7	133,243,131 (GRCm39)	missense	possibly damaging	0.52
R5450:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5906:Edrf1	UTSW	7	133,265,144 (GRCm39)	missense	probably benign
R6272:Edrf1	UTSW	7	133,239,537 (GRCm39)	start gained	probably benign
R6275:Edrf1	UTSW	7	133,269,311 (GRCm39)	missense	possibly damaging	0.60
R7144:Edrf1	UTSW	7	133,239,578 (GRCm39)	missense	probably benign
R7244:Edrf1	UTSW	7	133,256,079 (GRCm39)	missense	probably benign	0.01
R7716:Edrf1	UTSW	7	133,245,455 (GRCm39)	missense	probably damaging	0.99
R8193:Edrf1	UTSW	7	133,263,606 (GRCm39)	missense	possibly damaging	0.95
R8197:Edrf1	UTSW	7	133,249,088 (GRCm39)	missense	probably benign	0.41
R8553:Edrf1	UTSW	7	133,252,047 (GRCm39)	missense	possibly damaging	0.88
R8710:Edrf1	UTSW	7	133,245,495 (GRCm39)	missense	probably damaging	1.00
R8839:Edrf1	UTSW	7	133,255,644 (GRCm39)	missense	probably benign	0.00
R9035:Edrf1	UTSW	7	133,245,431 (GRCm39)	missense	probably damaging	0.97
R9051:Edrf1	UTSW	7	133,273,207 (GRCm39)	missense	probably benign	0.00
R9121:Edrf1	UTSW	7	133,258,770 (GRCm39)	frame shift	probably null
R9396:Edrf1	UTSW	7	133,261,838 (GRCm39)	missense	possibly damaging	0.79
R9551:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00
R9552:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTACCAAAGAAGGGCATACC -3'
(R):5'- CCCACTCTAAGATATACTCTGTCAC -3'

Sequencing Primer
(F):5'- GGCATACCTATTGGCTCTTTAAAGG -3'
(R):5'- TCTTTAGCTTAGATAGTGGGACTAC -3'

Posted On

2016-08-04